Incidental Mutation 'RF006:Tfeb'
ID 602852
Institutional Source Beutler Lab
Gene Symbol Tfeb
Ensembl Gene ENSMUSG00000023990
Gene Name transcription factor EB
Synonyms Tcfeb, TFEB, bHLHe35
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # RF006 (G1)
Quality Score 159.468
Status Not validated
Chromosome 17
Chromosomal Location 48047962-48103341 bp(+) (GRCm39)
Type of Mutation small insertion (1 aa in frame mutation)
DNA Base Change (assembly) CAG to CAGGAG at 48097038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024786] [ENSMUST00000086932] [ENSMUST00000113284] [ENSMUST00000113288] [ENSMUST00000125177] [ENSMUST00000126258] [ENSMUST00000130208] [ENSMUST00000137845] [ENSMUST00000141631] [ENSMUST00000146782] [ENSMUST00000159641] [ENSMUST00000160373]
AlphaFold Q9R210
Predicted Effect probably benign
Transcript: ENSMUST00000024786
SMART Domains Protein: ENSMUSP00000024786
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
Pfam:MITF_TFEB_C_3_N 63 220 2e-69 PFAM
HLH 299 352 1.44e-15 SMART
Pfam:DUF3371 379 531 1.8e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000086932
SMART Domains Protein: ENSMUSP00000084151
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
low complexity region 7 43 N/A INTRINSIC
low complexity region 108 122 N/A INTRINSIC
HLH 240 293 1.44e-15 SMART
Pfam:DUF3371 320 473 7e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113284
SMART Domains Protein: ENSMUSP00000108909
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
low complexity region 7 43 N/A INTRINSIC
low complexity region 108 122 N/A INTRINSIC
Pfam:HLH 235 266 1.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113288
SMART Domains Protein: ENSMUSP00000108913
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
low complexity region 7 43 N/A INTRINSIC
low complexity region 108 122 N/A INTRINSIC
HLH 240 293 1.44e-15 SMART
Pfam:DUF3371 320 473 7e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125177
SMART Domains Protein: ENSMUSP00000121888
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 42 78 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126258
Predicted Effect probably benign
Transcript: ENSMUST00000130208
SMART Domains Protein: ENSMUSP00000122228
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
low complexity region 7 43 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137845
Predicted Effect probably benign
Transcript: ENSMUST00000141631
SMART Domains Protein: ENSMUSP00000118057
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
low complexity region 7 43 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146782
SMART Domains Protein: ENSMUSP00000120311
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
HLH 99 152 1.44e-15 SMART
Pfam:DUF3371 179 332 1.1e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159641
SMART Domains Protein: ENSMUSP00000124379
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
low complexity region 7 43 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160373
SMART Domains Protein: ENSMUSP00000124708
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
low complexity region 7 43 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.5%
Validation Efficiency 97% (36/37)
MGI Phenotype PHENOTYPE: Homozygotes for a targeted null mutation exhibit severe defects in placental vascularization with few vessels entering the placenta and little branching. Mutants die between embryonic days 9.5 and 10.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd7 GTT GT 2: 3,341,736 (GRCm39) probably null Het
Acp7 A T 7: 28,314,204 (GRCm39) N330K possibly damaging Het
Adam25 A T 8: 41,208,834 (GRCm39) H700L probably benign Het
Alg9 GGGTGG GGGTGGTGG 9: 50,686,717 (GRCm39) probably benign Het
Atp8b3 A T 10: 80,362,070 (GRCm39) V689E probably benign Het
Atxn2l A G 7: 126,095,063 (GRCm39) V533A probably benign Het
Catsperb G A 12: 101,542,238 (GRCm39) probably null Het
Ccdc121 C T 5: 31,644,894 (GRCm39) Q216* probably null Het
Ccdc13 T C 9: 121,643,273 (GRCm39) K376R probably damaging Het
Ccdc170 C CCAA 10: 4,511,030 (GRCm39) probably benign Het
Cdh9 G C 15: 16,855,916 (GRCm39) R652P probably damaging Het
Cenpf A C 1: 189,389,583 (GRCm39) C1416W probably damaging Het
Chga GCA GCATCA 12: 102,527,671 (GRCm39) probably benign Het
Cyb5r4 TGTGACAGACACACTGCCCAGGGAAG TGTGACAGACACACTGCCCAGGGAAGTGACAGACACACTGCCCAGGGAAG 9: 86,922,478 (GRCm39) probably benign Het
Cyb5r4 CCCAGGGA CCCAGGGATGTGAGAGACACGCTGGCCAGGGA 9: 86,922,494 (GRCm39) probably benign Het
Dennd3 T C 15: 73,419,441 (GRCm39) I744T probably damaging Het
Dnah1 C T 14: 31,029,832 (GRCm39) R491Q probably benign Het
Eif4a2 A T 16: 22,929,028 (GRCm39) M188L possibly damaging Het
Esf1 CTCCTCTTC CTC 2: 140,006,294 (GRCm39) probably benign Het
Fat3 T C 9: 15,909,913 (GRCm39) I2030V probably benign Het
Gab3 CTT CTTTTT X: 74,043,633 (GRCm39) probably benign Het
Gins4 A T 8: 23,717,183 (GRCm39) V195E possibly damaging Het
Gm17402 TCCTCCTCC TCCTCCTCCCCCTCCTCC 3: 67,272,892 (GRCm39) probably benign Het
Gm17604 CTCTCTTTC CTC X: 163,786,814 (GRCm39) probably null Het
Gm8369 GTGTGT GTGTGTTTGTGT 19: 11,489,128 (GRCm39) probably benign Het
Gnpnat1 T A 14: 45,620,900 (GRCm39) probably null Het
Inpp4a A C 1: 37,427,908 (GRCm39) N651T possibly damaging Het
Ireb2 T C 9: 54,788,768 (GRCm39) F81L possibly damaging Het
Kcnh3 T A 15: 99,137,809 (GRCm39) probably null Het
Kmt2b CTCCTC CTCCTCATCCTC 7: 30,285,802 (GRCm39) probably benign Het
Kmt2c TG TGCTGTGG 5: 25,520,770 (GRCm39) probably benign Het
Myt1 T C 2: 181,439,566 (GRCm39) S405P probably damaging Het
Net1 T C 13: 3,937,406 (GRCm39) T245A probably benign Het
Nkx2-1 T C 12: 56,580,332 (GRCm39) T203A probably damaging Het
Oas3 T C 5: 120,912,165 (GRCm39) E75G probably damaging Het
Pappa T A 4: 65,242,110 (GRCm39) D1491E probably benign Het
Pkhd1l1 C A 15: 44,366,634 (GRCm39) T704K probably benign Het
Pkhd1l1 TT TTTTTTTTTGT 15: 44,421,903 (GRCm39) probably benign Het
Plscr1l1 A T 9: 92,234,702 (GRCm39) I146F possibly damaging Het
Ppp1r8 TCTCTCAC TC 4: 132,557,928 (GRCm39) probably benign Het
Ppp2r3c T A 12: 55,340,600 (GRCm39) I157F probably benign Het
Pramel34 A T 5: 93,784,562 (GRCm39) C301S probably benign Het
Rspo4 C T 2: 151,709,797 (GRCm39) probably null Het
Rtn4 T C 11: 29,656,919 (GRCm39) S358P possibly damaging Het
Siglecg T A 7: 43,058,288 (GRCm39) Y58* probably null Het
Slc4a1 C T 11: 102,247,542 (GRCm39) probably null Het
Slc9b1 CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG 3: 135,063,303 (GRCm39) probably benign Het
Smc2 T A 4: 52,442,276 (GRCm39) D64E probably benign Het
Spaca1 CTCGC CTCGCTATCGC 4: 34,049,853 (GRCm39) probably benign Het
Srrm2 A G 17: 24,031,562 (GRCm39) S236G unknown Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Strn TGCTCCCTTACCCCAGTC TGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGAGCTCCCTTACCCCAGTC 17: 78,984,700 (GRCm39) probably null Het
Tktl2 A T 8: 66,965,504 (GRCm39) E354V probably benign Het
Tpte A G 8: 22,796,959 (GRCm39) T94A probably benign Het
Usp40 A C 1: 87,894,917 (GRCm39) S868A possibly damaging Het
Vmn2r24 G A 6: 123,783,378 (GRCm39) C526Y probably damaging Het
Vmn2r58 CAAAATGATGTAGCACTT C 7: 41,486,383 (GRCm39) probably null Het
Other mutations in Tfeb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Tfeb APN 17 48,102,589 (GRCm39) missense probably benign 0.10
IGL03248:Tfeb APN 17 48,097,920 (GRCm39) missense probably benign
IGL03280:Tfeb APN 17 48,096,862 (GRCm39) missense probably benign
FR4304:Tfeb UTSW 17 48,097,019 (GRCm39) small insertion probably benign
FR4976:Tfeb UTSW 17 48,097,019 (GRCm39) small insertion probably benign
R0414:Tfeb UTSW 17 48,099,224 (GRCm39) splice site probably null
R1712:Tfeb UTSW 17 48,099,911 (GRCm39) critical splice donor site probably null
R2014:Tfeb UTSW 17 48,102,484 (GRCm39) missense probably damaging 0.97
R2101:Tfeb UTSW 17 48,100,590 (GRCm39) missense probably damaging 1.00
R4283:Tfeb UTSW 17 48,100,699 (GRCm39) missense probably damaging 1.00
R4734:Tfeb UTSW 17 48,096,787 (GRCm39) missense probably benign 0.33
R4785:Tfeb UTSW 17 48,099,152 (GRCm39) splice site probably null
R4948:Tfeb UTSW 17 48,096,904 (GRCm39) missense probably benign 0.00
R5896:Tfeb UTSW 17 48,070,433 (GRCm39) critical splice donor site probably null
R6522:Tfeb UTSW 17 48,100,627 (GRCm39) missense probably damaging 1.00
R6804:Tfeb UTSW 17 48,100,735 (GRCm39) critical splice donor site probably null
R6836:Tfeb UTSW 17 48,097,123 (GRCm39) critical splice donor site probably null
R6923:Tfeb UTSW 17 48,097,908 (GRCm39) missense probably benign 0.11
RF002:Tfeb UTSW 17 48,097,027 (GRCm39) small insertion probably benign
RF003:Tfeb UTSW 17 48,099,003 (GRCm39) missense possibly damaging 0.86
RF008:Tfeb UTSW 17 48,097,027 (GRCm39) small insertion probably benign
RF010:Tfeb UTSW 17 48,097,032 (GRCm39) small insertion probably benign
RF010:Tfeb UTSW 17 48,097,019 (GRCm39) small insertion probably benign
RF018:Tfeb UTSW 17 48,097,020 (GRCm39) small insertion probably benign
RF022:Tfeb UTSW 17 48,097,019 (GRCm39) small insertion probably benign
RF025:Tfeb UTSW 17 48,097,013 (GRCm39) small insertion probably benign
RF028:Tfeb UTSW 17 48,097,022 (GRCm39) small insertion probably benign
RF030:Tfeb UTSW 17 48,097,036 (GRCm39) small insertion probably benign
RF030:Tfeb UTSW 17 48,097,037 (GRCm39) small insertion probably benign
RF030:Tfeb UTSW 17 48,097,038 (GRCm39) small insertion probably benign
RF034:Tfeb UTSW 17 48,097,023 (GRCm39) nonsense probably null
RF034:Tfeb UTSW 17 48,097,022 (GRCm39) small insertion probably benign
RF035:Tfeb UTSW 17 48,097,036 (GRCm39) small insertion probably benign
RF036:Tfeb UTSW 17 48,097,028 (GRCm39) small insertion probably benign
RF038:Tfeb UTSW 17 48,097,037 (GRCm39) small insertion probably benign
RF038:Tfeb UTSW 17 48,097,030 (GRCm39) small insertion probably benign
RF039:Tfeb UTSW 17 48,097,035 (GRCm39) nonsense probably null
RF039:Tfeb UTSW 17 48,097,020 (GRCm39) small insertion probably benign
RF040:Tfeb UTSW 17 48,097,036 (GRCm39) small insertion probably benign
RF040:Tfeb UTSW 17 48,097,035 (GRCm39) small insertion probably benign
RF040:Tfeb UTSW 17 48,097,022 (GRCm39) small insertion probably benign
RF040:Tfeb UTSW 17 48,097,037 (GRCm39) small insertion probably benign
RF041:Tfeb UTSW 17 48,097,025 (GRCm39) small insertion probably benign
RF042:Tfeb UTSW 17 48,097,022 (GRCm39) small insertion probably benign
RF047:Tfeb UTSW 17 48,097,041 (GRCm39) small insertion probably benign
RF047:Tfeb UTSW 17 48,097,031 (GRCm39) small insertion probably benign
RF053:Tfeb UTSW 17 48,097,039 (GRCm39) small insertion probably benign
RF054:Tfeb UTSW 17 48,097,023 (GRCm39) nonsense probably null
RF060:Tfeb UTSW 17 48,097,031 (GRCm39) small insertion probably benign
RF061:Tfeb UTSW 17 48,097,017 (GRCm39) small insertion probably benign
RF062:Tfeb UTSW 17 48,097,025 (GRCm39) small insertion probably benign
Z1177:Tfeb UTSW 17 48,102,569 (GRCm39) missense possibly damaging 0.74
Z1177:Tfeb UTSW 17 48,097,449 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AATACTTCATGGGCCTGTCTCC -3'
(R):5'- GAACCTTCTGATGCTGGGACTG -3'

Sequencing Primer
(F):5'- TCTCCCCTCGACTACAGGGAG -3'
(R):5'- TTCTCCAGGTAGGACTGCAC -3'
Posted On 2019-12-04